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OCR for page 99
8
Implications for Society
The applications and implications for biology and medicine of a
project to map and sequence the human genome have been mentioned
often in this report. In this final chapter we discuss some of the other
issues for society, including the commercial, legal, and ethical impli-
cations of such a project.
COMMERCIAL AND LEGAL IMPLICATIONS
Mapping and sequencing the human genome will result in new
information and materials of potential commercial value, for example,
clones that encode previously undiscovered hormones, growth factors,
or mediators of immunity. The commercial value of these resources
raises questions concerning possible copyright protection of the data
and ownership of the intellectual property and materials generated by
participants in the human genome project. Should it be possible to
copyright sequences from the human genome and, if so, by whom?
Should a central agency of the government own the patents for new
materials, such as DNA clones generated by this project? What are
the implications for international collaboration? Because these are
complex issues requiring study by scientists, lawyers, and policy-
makers, the committee believes that they should be given prompt
study by an independent body. It is important to resolve the legal
issues concerning the conduct of the human genome project. Abso-
lutely essential to the success of the project will be cooperation
between laboratories and centers within the United States and
internationally and the ready availability of data and materials to all
99
OCR for page 100
loo
MAPPING AND SEQUENCING THE HUMAN GENOME
participants. This committee believes that human genome sequences
should be a public trust and therefore should not be subject to
copyright.
ETHICAL AND SOCIAL IMPLICATIONS
Whatever its scientific merits, a concerted effort to map and
sequence the human genome would have profound social significance.
Human beings are fascinated with the reasons we are what we are,
both for what those reasons tell us about ourselves and for the insights
they give us into those around us. In this context, the prospect of a
complete biological book on humankind provokes both excitement
and concern and raises philosophical and ethical questions. Three
sorts of questions seem particularly important to reflect upon in
advance of any genome mapping and sequencing effort: How should
the project proceed? How should the information be interpreted? To
what use should the resulting information be applied? None of these
are new questions for human geneticists. In fact, the ethical and social
challenges presented by a human genome mapping and sequencing
project are;largely the same as those already addressed by scientists,
clinicians, patients, and policymakers in other settings (Macklin,
19851. Still, the scale and significance of this project require that these
questions be carefully assessed in this context.
Conductirlg a Genome Mapping arid Sequencing Project
The ethical considerations involved in conducting this project are
shared by those conducting any biomedical analysis of human tissue.
One consideration concerns privacy and confidentiality. The privacy
and autonomy of the individuals who contribute the material studied
must be protected. For most research in this project, this goal is
easily accomplished: The isolated cell lines and genetic materials
analyzed will come from a wide variety of sources, through standard
channels designed to preserve the confidentiality of the contributors
and ensure that their participation is voluntary (U.S. Congress, House
Committee on Science and Technology, 1986~. However, where family
histories are studied to produce genetic linkage maps, geneticists will
sometimes face ethical dilemmas over maintaining confidentiality or
disclosing research findings to a relative discovered to be at risk for
genetic disease. Again, this is not a new problem for human geneticists
(Capron, 19791. As the mapping research proceeds, it will become
increasingly important to reconfirm the geneticist's traditional will-
ingness to take on the burden of responsibility in decisions to break
OCR for page 101
IMPLICATIONS FOR SOCIETY
101
confidentiality and to consider such a break only when the probability
is high that serious, avoidable harm would otherwise come to iden-
tifiable individuals (President's Commission, 19831.
Interpreting the Medical Implications of Genetic Information
Mapping and sequencing the human genome could provide a great
deal of new knowledge about the genetic basis of human disease.
However, the effects of that knowledge will be highly colored by the
way its practical implications are interpreted. Without careful inter-
pretation, information that links particular genes with disease can
have harmful consequences for the people who carry those genes,
quite apart from the disease itself.
For example, without clear guidance it would be easy for people
to misinterpret statistical correlations between clinical diseases and
particular genetic markers, so that they take the discovery of the
marker to be diagnostic of the disease. Genetic susceptibilities,
predispositions, or risks for disease are variable and sometimes
ambiguous concepts (I,appe, 1979a). If interpreted too strongly,
preventive efforts could force certain groups or individuals to assume
the social and psychological burdens of the afflicted unnecessarily.
For example, only 0.10 percent of those who have the HLA B 27
marker associated with ankylosing spondylitis will ever develop the
disease (Lappe, 1979b). That association, however, could heighten
the anxieties and affect the plans of many more people if it is
misunderstood or overstressed.
These misinterpretations can also affect our social policies. Because
of the connection we make between our genetic constitutions and our
identities as individuals, diagnoses that trace diseases to our genes
can also convey stigma and set the stage for social prejudice (Ablon,
1981~. It will be the burden of the researchers to interpret the
correlations they draw as clearly as possible, to avoid simplistic
associations between genetic markers and clinical conditions, and to
educate clinicians and the public about the actual implications of their
findings for individuals.
Moreover, even where prognostic information about disease is
interpreted correctly, it may still be clinically problematic. Where
there is no effective therapy, new abilities to detect diseases in
advance of their onset create harder choices for clinicians and patients.
As we explore the human genome, more people will be faced with
the dilemma that now faces those at risk from Huntington's disease:
Is it better or not to know one's fate when it is out of one's control?
At the same time, the very discoveries that exacerbate those dilemmas
OCR for page 102
102
MAPPING AND SEQUENCING THE HUMAN GENOME
will also be crucial steps in developing of the new therapies that can
help resolve them. It will be important as the project proceeds to
pursue those steps and attempt to narrow, rather than widen, the gap
between our abilities to diagnose and treat disease (Fletcher and
Jonsen, 1984~.
The Use and Abuse of a Complete Become Map
Probably the most contentious set of social problems resulting from
a human genome project would be in the use of its findings. As a by-
product of the project, a great number of new diagnostic tests for
specific traits and conditions will become available. The scientific and
medical communities will receive an increasing variety of screening
requests, ranging between those from couples making reproductive
decisions to those from employers planning personnel policies. The
issues they will face in considering those requests again return to the
very personal nature of the information the screening tests yield: Is
it ever appropriate to screen an individual for the benefit or profit of
some other person or institution?
The most controversial applications of the new genetic screen would
be their use by industries and insurance companies to identify
individuals who might be occupational or insurance risks (Murray,
19831. As the human genome project proceeds, the ongoing discussion
of these practices, and the need for sound social policy about them,
will only intensify. Questions about protecting individual autonomy,
the ownership of genetic information, and the interpretation of map-
based medical prognoses will figure heavily in this discussion. To a
large extent, any changes in social policy will reflect the ways those
same questions are addressed by the scientific community in con-
ducting the project.
Ethical questions about the appropriate use of genetic information
may also be raised within the more intimate circle of the nuclear
family. For example, are there limits on the traits that parents may
decide their children must have? Traditionally, these limits have been
set at the boundaries of the pathological conditions; screening requests
for traits that have no pathological import, such as the sex of the
child, are usually denied (Juengst, 1987~. Yet the boundaries of
conditions that might be regarded as pathological are vague. As genetic
markers become available for an increasing range of traits, the ability
to identify those markers prenatally will present difficult decisions for
clinical geneticists: What levels of disease susceptibility or risk warrant
OCR for page 103
IMPLICATIONS FOR SOCIETY
103
prenatal diagnosis? Are prenatal tests for somatically correctible
genetic defects, diseases with late onset, or minor defects appropriate?
Once again, these questions are not unique to the effort to map and
sequence the human genome. They are all questions already presented
to clinicians, geneticists, and prospective parents by current diagnostic
techniques. By making an increasingly wide range of screening tests
available, however, the human genome project is likely to increase
the frequency with which these questions arise and the need for
settled professional and social approaches to them. Fortunately, in
the development of social policy and professional ethics with regard
to these questions, it is already possible to draw on the resources of
a large literature base and lively public discussion (for example, see
Milunsky and Annas, 19851. Important steps toward social consensus
on the issues have even taken place at the national level. For example,
the reports of the President's Commission for the Study of Ethical
Problems in Medicine and Biomedical and Behavioral Research (1982,
1983) already offer a useful orientation that can help meet the ethical
challenges that mapping and sequencing the human genome would
present.
Finally, it should be noted that RF~Ps will continue to be developed,
maps will be made, and genetic counseling will occur even without a
concerted effort to map and sequence the human genome. The greater
coordination and quality control that will result from a concerted
effort will in fact benefit the public by reducing the chance of misuse
of poorly organized information.
REFERENCES
Ablon, J. 1981. Stigmatized health conditions. Soc. Sci. Med. 15B:5-9.
Capron, A. M 1979. Autonomy, confidentiality and quality care in genetic counseling. In
A. M. Capron et al., eds. Genetic Counseling: Facts, Values, and Norms (Birth
Defects: Original Article Series, vol. 15). Alan R. Liss, New York. Pp. 307-340.
Fletcher, J., and A. Jonsen. 1984. Ethical considerations in prenatal diagnosis and treatment.
In M. R. Harrison, M. S. Golbus, and R. A. Filly, eds. The Unborn Patient: Prenatal
Diagnosis and Treatment. Grune and Stratton, New York. Pp. 159-167.
Juengst, E. 1987. Prenatal diagnosis and the ethics of uncertainty. In J. F. Monagle, and
D. C. Thomasa, eds. Medical Ethics: A Guide for Health Care Professionals. Aspen,
Rockville, Md. Pp.23-32.
Lappe, M. 1979a. Theories of genetic causation in human disease. In A. M. Capron et al.,
eds. Genetic Counseling: Facts, Values, and Norms (Birth Defects: Original Article
Series, volume 15). Alan R. Liss, New York. Pp. 3~7.
Lappe, M. 1979b. Genetic Politics: The Limits of Biological Control. Simon and Schuster,
New York.
Macklin, R. 1985. Mapping the human genome: Problems of privacy and free choice In
OCR for page 104
104 MAPPING AND SEQUENCING THE HUMAN GENOME
A. Milunsky and G. J. Annas, eds. Genetics and the Law III. Plenum, New York. Pp.
107-115
Milunsky, A., and G. J. Annas, eds. 1985. Genetics and the Law III. Plenum, New York.
Murray, T. H. 1983. Genetic screening in the workplace: Ethical issues. J. Occup. Med.
- 25:451~.
President's Commission for the Study of Ethical Problems in Medicine and Biomedical and
Behavioral Research. 1982. Splicing Life: The Social and Ethical Issues of Genetic
Engineenog with Human Beings. Government Printing Office, Washington, D.C.
President's Commission for the Study of Ethical Problems in Medicine and Biomedical and
Behavioral Research. 1983. Screening and Counseling for Genetic Conditions: The
Ethical, Social and Legal Implications of Genetic Screening, Counseling, and Education
Programs. Government Printing Office, Washington, D.C.
U.S. Congress House Committee on Science and Technology, Subcommittee on Investi-
gations and Oversight. 1986. The Use of Human Biological Materials in the Development
of Biomedical Products. 99th Cong., 1st sess. Government Printing Office, Washington,
D.C.
Representative terms from entire chapter:
genetic markers
